Epilepsy & Behavior Reports, 2021 Photic stimulation is a common trigger for generalized epilepsies but may rarely incite focal seizures. Aside from documented cases of photosensitive occipital lobe epilepsies, few reported instances exist of focal epilepsies being triggered by ...
Nicholas J. Bratt, Cliff W. Hampton
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Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance [PDF]
BiomedicinesBackground: Congenital mesoblastic nephroma represents 3–10% of all pediatric renal tumors. With the advancement of ultrasound diagnostics and magnetic resonance imaging, the diagnosis of this renal neoplasm is increasingly being established prenatally ...
Hristina Zakić +5 more
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TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review [PDF]
Frontiers in PediatricsBackgroundTUBGCP2 variants are associated with the LIS spectrum disorders, but its pathogenesis remains unclear. To retrospectively analyze the clinical features and genetic information of patients having lissencephaly spectrum disorders associated with ...
Tao Yu, Miao Yu, Xueyan Liu, Hua Wang
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Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome [PDF]
Epilepsy & Behavior ReportsCoffin–Siris syndrome is a rare multiple congenital anomaly syndrome. We report a case of medically refractory epilepsy developing in a pediatric patient with ARID1B-related Coffin–Siris syndrome, with pachygyria and polymicrogyria in right frontal lobe.
Xiao-Lai Ye +6 more
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Lissencephaly-pachygyria and cerebellar hypoplasia in a calf [PDF]
Ciência Rural, 2016 : A case of lissencephaly-pachygyria and cerebellar hypoplasia diagnosed in a Charolais x Tabapuã calf is described. The calf presented since birth, clinical signs characterized by apathy, prolonged recumbency, tremors of the head and neck, ataxia ...
Bianca Lemos dos Santos +5 more
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Subcortical band heterotopia and pachygyria with cognitive deterioration in an elderly patient
Kerala Journal of Psychiatry, 2021 Subcortical band heterotopia and pachygyria are rare conditions characterized by ectopic neuronal migration, leading to the appearance of "continuous double cortex appearance" and loss of normal convolutions of the cortex, respectively on neuroimaging ...
Surendran Kalambattumadathil Surabhi +2 more
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Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review [PDF]
Frontiers in Neurology, 2023 BackgroundMutations in the dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations.
Wen-Rong Ge +7 more
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De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism [PDF]
The Journal of Clinical InvestigationReelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical ...
Martina Riva +23 more
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Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans [PDF]
Nature CommunicationsThe CELSR1 gene is a core component of the tissue/planar cell polarity signaling pathway. It encodes a developmentally regulated protein that belongs to the adhesion G protein-coupled receptors.
Claudia M. Bonardi +27 more
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Mirror Imaginary Movement Disorder and Pachygyria Association: Case Report
Türk Nöroloji Dergisi, 2017 Mirror imaginary movement disorders are a group of syndromes characterized by automatic reflex mimicking of voluntary movements on the contralateral side.
Yusuf Ehi +4 more
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